DEFB103B (defensin beta 103B) - Rat Genome Database

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Gene: DEFB103B (defensin beta 103B) Homo sapiens
Analyze
Symbol: DEFB103B
Name: defensin beta 103B
RGD ID: 1344949
HGNC Page HGNC:31702
Description: Predicted to enable CCR6 chemokine receptor binding activity and chemoattractant activity. Involved in defense response to other organism. Acts upstream of or within defense response to bacterium. Located in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BD-3; beta-defensin 103; beta-defensin 3; DEFB-3; DEFB103; DEFB3; defensin, beta 103; defensin, beta 103B; defensin, beta 3; defensin-like protein; HBD-3; HBD3; HBP-3; HBP3
RGD Orthologs
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,428,888 - 7,430,348 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,428,888 - 7,430,348 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl87,881,392 - 7,882,663 (+)EnsemblGRCh38hg38GRCh38
GRCh3787,286,410 - 7,287,870 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,273,901 - 7,275,280 (-)NCBINCBI36Build 36hg18NCBI36
Build 3487,776,135 - 7,777,588NCBI
Cytogenetic Map8p23.1NCBI
HuRef86,934,609 - 6,935,881 (-)NCBIHuRef
CHM1_187,340,124 - 7,341,397 (+)NCBICHM1_1
T2T-CHM13v2.087,157,879 - 7,159,340 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11085990   PMID:11223260   PMID:11523142   PMID:11702237   PMID:11714836   PMID:11741980   PMID:12013554   PMID:12375270   PMID:12477932   PMID:12727027   PMID:12825122  
PMID:12840147   PMID:12892899   PMID:14703118   PMID:14714554   PMID:14981906   PMID:15625724   PMID:15820309   PMID:15829297   PMID:15934078   PMID:16034119   PMID:16436752   PMID:16634647  
PMID:16741514   PMID:16778986   PMID:16818731   PMID:16954397   PMID:17007044   PMID:17015038   PMID:17415576   PMID:17460726   PMID:18006661   PMID:18167348   PMID:18180295   PMID:18345484  
PMID:18345485   PMID:18385759   PMID:18452706   PMID:18538383   PMID:18627502   PMID:18711400   PMID:18925411   PMID:19108000   PMID:19194307   PMID:19219676   PMID:19480463   PMID:19554343  
PMID:19580334   PMID:19675119   PMID:19702947   PMID:19734018   PMID:19741426   PMID:19995893   PMID:20104491   PMID:20128731   PMID:20385753   PMID:20404083   PMID:20483368   PMID:20483750  
PMID:20819126   PMID:21071608   PMID:21115716   PMID:21387465   PMID:21393042   PMID:21442129   PMID:21464083   PMID:21470491   PMID:21631237   PMID:21809339   PMID:21843332   PMID:21873635  
PMID:22023339   PMID:22035653   PMID:22232436   PMID:22296408   PMID:22364200   PMID:22386945   PMID:22391815   PMID:22418431   PMID:22444247   PMID:22572817   PMID:22704618   PMID:22837529  
PMID:22860513   PMID:22951718   PMID:23133681   PMID:23204181   PMID:23499548   PMID:23608825   PMID:23614747   PMID:23659571   PMID:23698749   PMID:23774076   PMID:23790489   PMID:23829433  
PMID:24120511   PMID:24579469   PMID:24633129   PMID:24747887   PMID:24831548   PMID:24956228   PMID:24969834   PMID:25381795   PMID:25512526   PMID:25541254   PMID:26038828   PMID:26224324  
PMID:26302933   PMID:26347021   PMID:26367466   PMID:26417692   PMID:26536271   PMID:26539799   PMID:26646717   PMID:26688341   PMID:26733497   PMID:26874342   PMID:26960373   PMID:27034006  
PMID:27298203   PMID:27377709   PMID:27438026   PMID:27636754   PMID:27651414   PMID:27713149   PMID:28092794   PMID:28106297   PMID:28188794   PMID:28677765   PMID:28886588   PMID:30160144  
PMID:30207316   PMID:31882811   PMID:32296183   PMID:32350241   PMID:34362937   PMID:34399250   PMID:34473496   PMID:34855866   PMID:38246944   PMID:38422885  


Genomics

Comparative Map Data
DEFB103B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3887,428,888 - 7,430,348 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl87,428,888 - 7,430,348 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl87,881,392 - 7,882,663 (+)EnsemblGRCh38hg38GRCh38
GRCh3787,286,410 - 7,287,870 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3687,273,901 - 7,275,280 (-)NCBINCBI36Build 36hg18NCBI36
Build 3487,776,135 - 7,777,588NCBI
Cytogenetic Map8p23.1NCBI
HuRef86,934,609 - 6,935,881 (-)NCBIHuRef
CHM1_187,340,124 - 7,341,397 (+)NCBICHM1_1
T2T-CHM13v2.087,157,879 - 7,159,340 (-)NCBIT2T-CHM13v2.0
SPAG11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1538,033,961 - 38,037,606 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11538,027,922 - 38,037,608 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1(chr8:7195664-7948707)x1 copy number loss See cases [RCV000133910] Chr8:7195664..7948707 [GRCh38]
Chr8:7053186..7806229 [GRCh37]
Chr8:7040596..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 copy number loss See cases [RCV000050276] Chr8:7195664..7895064 [GRCh38]
Chr8:7053186..7752586 [GRCh37]
Chr8:7040596..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 copy number loss See cases [RCV000050282] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3 copy number gain See cases [RCV000050484] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1 copy number loss See cases [RCV000050492] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1 copy number loss See cases [RCV000050650] Chr8:7022782..8273167 [GRCh38]
Chr8:6880304..8130689 [GRCh37]
Chr8:6867714..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 copy number gain See cases [RCV000050565] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x1 copy number loss See cases [RCV000050573] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8273167)x3 copy number gain See cases [RCV000050726] Chr8:7411297..8273167 [GRCh38]
Chr8:7268819..8130689 [GRCh37]
Chr8:7256229..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000050621] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:7411297-8273167)x1 copy number loss See cases [RCV000050727] Chr8:7411297..8273167 [GRCh38]
Chr8:7268819..8130689 [GRCh37]
Chr8:7256229..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3 copy number gain See cases [RCV000051192] Chr8:7411297..12182465 [GRCh38]
Chr8:7268819..12039974 [GRCh37]
Chr8:7256229..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1 copy number loss See cases [RCV000053154] Chr8:7195664..12383643 [GRCh38]
Chr8:7053186..12241152 [GRCh37]
Chr8:7040596..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1 copy number loss See cases [RCV000053165] Chr8:7234837..12514815 [GRCh38]
Chr8:7092359..12372324 [GRCh37]
Chr8:7079769..12416695 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-12610175)x1 copy number loss See cases [RCV000053166] Chr8:7411097..12610175 [GRCh38]
Chr8:7268619..12467684 [GRCh37]
Chr8:7256029..12512055 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1 copy number loss See cases [RCV000053167] Chr8:7411297..11961807 [GRCh38]
Chr8:7268819..11819316 [GRCh37]
Chr8:7256229..11856725 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|See cases [RCV000053168] Chr8:7411297..12546553 [GRCh38]
Chr8:7268819..12404062 [GRCh37]
Chr8:7256229..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:2475295-7895064)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|See cases [RCV000053605] Chr8:2475295..7895064 [GRCh38]
Chr8:2292235..7752586 [GRCh37]
Chr8:2193565..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 copy number gain See cases [RCV000053600] Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3 copy number gain See cases [RCV000053601] Chr8:219853..10165486 [GRCh38]
Chr8:169853..10022996 [GRCh37]
Chr8:159853..10060406 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-7948707)x3 copy number gain See cases [RCV000133893] Chr8:7311968..7948707 [GRCh38]
Chr8:7169490..7806229 [GRCh37]
Chr8:7156900..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7948707)x1 copy number loss See cases [RCV000133894] Chr8:7311968..7948707 [GRCh38]
Chr8:7169490..7806229 [GRCh37]
Chr8:7156900..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8222398)x3 copy number gain See cases [RCV000133878] Chr8:7311968..8222398 [GRCh38]
Chr8:7169490..8079920 [GRCh37]
Chr8:7156900..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8222398)x1 copy number loss See cases [RCV000133879] Chr8:7311968..8222398 [GRCh38]
Chr8:7169490..8079920 [GRCh37]
Chr8:7156900..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7895064)x3 copy number gain See cases [RCV000133884] Chr8:7381969..7895064 [GRCh38]
Chr8:7239491..7752586 [GRCh37]
Chr8:7226901..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7895064)x1 copy number loss See cases [RCV000133885] Chr8:7381969..7895064 [GRCh38]
Chr8:7239491..7752586 [GRCh37]
Chr8:7226901..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8429785)x1 copy number loss See cases [RCV000133805] Chr8:7411297..8429785 [GRCh38]
Chr8:7268819..8287295 [GRCh37]
Chr8:7256229..8324705 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 copy number gain See cases [RCV000050620] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022782-8222398)x3 copy number gain See cases [RCV000133631] Chr8:7022782..8222398 [GRCh38]
Chr8:6880304..8079920 [GRCh37]
Chr8:6867714..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8273167)x1 copy number loss See cases [RCV000133700] Chr8:7195664..8273167 [GRCh38]
Chr8:7053186..8130689 [GRCh37]
Chr8:7040596..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022782-7895064)x1 copy number loss See cases [RCV000133718] Chr8:7022782..7895064 [GRCh38]
Chr8:6880304..7752586 [GRCh37]
Chr8:6867714..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8237251)x1 copy number loss See cases [RCV000133752] Chr8:7311968..8237251 [GRCh38]
Chr8:7169490..8094773 [GRCh37]
Chr8:7156900..8132183 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7187864-8222390)x1 copy number loss See cases [RCV000133754] Chr8:7187864..8222390 [GRCh38]
Chr8:7045386..8079912 [GRCh37]
Chr8:7032796..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x3 copy number gain See cases [RCV000133660] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195664-7834438)x1 copy number loss See cases [RCV000133666] Chr8:7195664..7834438 [GRCh38]
Chr8:7053186..7691960 [GRCh37]
Chr8:7040596..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7948707)x3 copy number gain See cases [RCV000133940] Chr8:7381969..7948707 [GRCh38]
Chr8:7239491..7806229 [GRCh37]
Chr8:7226901..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7948707)x1 copy number loss See cases [RCV000133941] Chr8:7381969..7948707 [GRCh38]
Chr8:7239491..7806229 [GRCh37]
Chr8:7226901..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8023794)x1 copy number loss See cases [RCV000134109] Chr8:7311988..8023794 [GRCh38]
Chr8:7169510..7881316 [GRCh37]
Chr8:7156920..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7330224-8023794)x3 copy number gain See cases [RCV000134043] Chr8:7330224..8023794 [GRCh38]
Chr8:7187746..7881316 [GRCh37]
Chr8:7175156..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7560508)x3 copy number gain See cases [RCV000134048] Chr8:7381949..7560508 [GRCh38]
Chr8:7239471..7418030 [GRCh37]
Chr8:7226881..7405440 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8023794)x3 copy number gain See cases [RCV000134011] Chr8:7256134..8023794 [GRCh38]
Chr8:7113656..7881316 [GRCh37]
Chr8:7101066..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8023794)x1 copy number loss See cases [RCV000134012] Chr8:7256134..8023794 [GRCh38]
Chr8:7113656..7881316 [GRCh37]
Chr8:7101066..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8023794)x1 copy number loss See cases [RCV000134015] Chr8:7253289..8023794 [GRCh38]
Chr8:7110811..7881316 [GRCh37]
Chr8:7098221..7918726 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7895074)x3 copy number gain See cases [RCV000134129] Chr8:7381949..7895074 [GRCh38]
Chr8:7239471..7752596 [GRCh37]
Chr8:7226881..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7217074-8222390)x1 copy number loss See cases [RCV000134024] Chr8:7217074..8222390 [GRCh38]
Chr8:7074596..8079912 [GRCh37]
Chr8:7062006..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8222390)x1 copy number loss See cases [RCV000134077] Chr8:7253289..8222390 [GRCh38]
Chr8:7110811..8079912 [GRCh37]
Chr8:7098221..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7834323)x3 copy number gain See cases [RCV000134112] Chr8:7381949..7834323 [GRCh38]
Chr8:7239471..7691845 [GRCh37]
Chr8:7226881..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7834323)x1 copy number loss See cases [RCV000134113] Chr8:7381949..7834323 [GRCh38]
Chr8:7239471..7691845 [GRCh37]
Chr8:7226881..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7253289-8034272)x1 copy number loss See cases [RCV000134087] Chr8:7253289..8034272 [GRCh38]
Chr8:7110811..7891794 [GRCh37]
Chr8:7098221..7929204 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8273167)x1 copy number loss See cases [RCV000133965] Chr8:7381969..8273167 [GRCh38]
Chr8:7239491..8130689 [GRCh37]
Chr8:7226901..8168099 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7834438)x3 copy number gain See cases [RCV000133972] Chr8:7381969..7834438 [GRCh38]
Chr8:7239491..7691960 [GRCh37]
Chr8:7226901..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7546159)x1 copy number loss See cases [RCV000133973] Chr8:7381969..7546159 [GRCh38]
Chr8:7239491..7403681 [GRCh37]
Chr8:7226901..7391091 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7895064)x3 copy number gain See cases [RCV000133974] Chr8:7311968..7895064 [GRCh38]
Chr8:7169490..7752586 [GRCh37]
Chr8:7156900..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7546133)x3 copy number gain See cases [RCV000134090] Chr8:7381949..7546133 [GRCh38]
Chr8:7239471..7403655 [GRCh37]
Chr8:7226881..7391065 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7546133)x1 copy number loss See cases [RCV000134091] Chr8:7381949..7546133 [GRCh38]
Chr8:7239471..7403655 [GRCh37]
Chr8:7226881..7391065 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7217074-8070470)x1 copy number loss See cases [RCV000134098] Chr8:7217074..8070470 [GRCh38]
Chr8:7074596..7927992 [GRCh37]
Chr8:7062006..7965402 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7895064)x1 copy number loss See cases [RCV000133975] Chr8:7311968..7895064 [GRCh38]
Chr8:7169490..7752586 [GRCh37]
Chr8:7156900..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8222398)x3 copy number gain See cases [RCV000133976] Chr8:7381969..8222398 [GRCh38]
Chr8:7239491..8079920 [GRCh37]
Chr8:7226901..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-8222398)x1 copy number loss See cases [RCV000133977] Chr8:7381969..8222398 [GRCh38]
Chr8:7239491..8079920 [GRCh37]
Chr8:7226901..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8222390)x1 copy number loss See cases [RCV000134102] Chr8:7256134..8222390 [GRCh38]
Chr8:7113656..8079912 [GRCh37]
Chr8:7101066..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7834438)x3 copy number gain See cases [RCV000133916] Chr8:7311968..7834438 [GRCh38]
Chr8:7169490..7691960 [GRCh37]
Chr8:7156900..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7834438)x1 copy number loss See cases [RCV000133917] Chr8:7311968..7834438 [GRCh38]
Chr8:7169490..7691960 [GRCh37]
Chr8:7156900..7729370 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-7546159)x3 copy number gain See cases [RCV000133918] Chr8:7311968..7546159 [GRCh38]
Chr8:7169490..7403681 [GRCh37]
Chr8:7156900..7391091 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1 copy number loss See cases [RCV000135293] Chr8:410369..7477103 [GRCh38]
Chr8:360369..7334625 [GRCh37]
Chr8:350369..7322035 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 copy number loss See cases [RCV000134879] Chr8:241530..10191595 [GRCh38]
Chr8:191530..10049105 [GRCh37]
Chr8:181530..10086515 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7381949-7948705)x3 copy number gain See cases [RCV000134808] Chr8:7381949..7948705 [GRCh38]
Chr8:7239471..7806227 [GRCh37]
Chr8:7226881..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7834323)x1 copy number loss See cases [RCV000134832] Chr8:7195674..7834323 [GRCh38]
Chr8:7053196..7691845 [GRCh37]
Chr8:7040606..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 copy number loss See cases [RCV000135534] Chr8:241530..10867132 [GRCh38]
Chr8:191530..10724642 [GRCh37]
Chr8:181530..10762052 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-7895205)x1 copy number loss See cases [RCV000135465] Chr8:7411097..7895205 [GRCh38]
Chr8:7268619..7752727 [GRCh37]
Chr8:7256029..7790137 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-7929893)x3 copy number gain See cases [RCV000136210] Chr8:7311998..7929893 [GRCh38]
Chr8:7169520..7787415 [GRCh37]
Chr8:7156930..7824825 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7385456-7477132)x3 copy number gain See cases [RCV000136255] Chr8:7385456..7477132 [GRCh38]
Chr8:7242978..7334654 [GRCh37]
Chr8:7230388..7322064 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381998-7514138)x1 copy number loss See cases [RCV000136298] Chr8:7381998..7514138 [GRCh38]
Chr8:7239520..7371660 [GRCh37]
Chr8:7226930..7359070 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381998-8222368)x1 copy number loss See cases [RCV000136309] Chr8:7381998..8222368 [GRCh38]
Chr8:7239520..8079890 [GRCh37]
Chr8:7226930..8117300 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-8222390)x3 copy number gain See cases [RCV000136108] Chr8:7411303..8222390 [GRCh38]
Chr8:7268825..8079912 [GRCh37]
Chr8:7256235..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-7802122)x1 copy number loss See cases [RCV000136372] Chr8:7311998..7802122 [GRCh38]
Chr8:7169520..7659644 [GRCh37]
Chr8:7156930..7697054 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3 copy number gain See cases [RCV000136522] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1 copy number loss See cases [RCV000136523] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311998-8222368)x3 copy number gain See cases [RCV000136432] Chr8:7311998..8222368 [GRCh38]
Chr8:7169520..8079890 [GRCh37]
Chr8:7156930..8117300 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-8222368)x1 copy number loss See cases [RCV000136433] Chr8:7311998..8222368 [GRCh38]
Chr8:7169520..8079890 [GRCh37]
Chr8:7156930..8117300 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-7921714)x3 copy number gain See cases [RCV000136468] Chr8:7311998..7921714 [GRCh38]
Chr8:7169520..7779236 [GRCh37]
Chr8:7156930..7816646 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311998-8222369)x1 copy number loss See cases [RCV000136180] Chr8:7311998..8222369 [GRCh38]
Chr8:7169520..8079891 [GRCh37]
Chr8:7156930..8117301 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411303-8364508)x3 copy number gain See cases [RCV000136002] Chr8:7411303..8364508 [GRCh38]
Chr8:7268825..8222024 [GRCh37]
Chr8:7256235..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-8273109)x1 copy number loss See cases [RCV000136011] Chr8:7195674..8273109 [GRCh38]
Chr8:7053196..8130631 [GRCh37]
Chr8:7040606..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256139-8222398)x1 copy number loss See cases [RCV000137187] Chr8:7256139..8222398 [GRCh38]
Chr8:7113661..8079920 [GRCh37]
Chr8:7101071..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 copy number gain See cases [RCV000137206] Chr8:782690..8222398 [GRCh38]
Chr8:732690..8079920 [GRCh37]
Chr8:722690..8117330 [NCBI36]
Chr8:8p23.3-23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1(chr8:7381949-8364508)x3 copy number gain See cases [RCV000138649] Chr8:7381949..8364508 [GRCh38]
Chr8:7239471..8222024 [GRCh37]
Chr8:7226881..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381948-7948701)x1 copy number loss See cases [RCV000138738] Chr8:7381948..7948701 [GRCh38]
Chr8:7239470..7806223 [GRCh37]
Chr8:7226880..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-8273109)x3 copy number gain See cases [RCV000138794] Chr8:7411303..8273109 [GRCh38]
Chr8:7268825..8130631 [GRCh37]
Chr8:7256235..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7948701)x1 copy number loss See cases [RCV000138764] Chr8:7256137..7948701 [GRCh38]
Chr8:7113659..7806223 [GRCh37]
Chr8:7101069..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7948701)x3 copy number gain See cases [RCV000138765] Chr8:7256137..7948701 [GRCh38]
Chr8:7113659..7806223 [GRCh37]
Chr8:7101069..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3 copy number gain See cases [RCV000138529] Chr8:7103661..12299882 [GRCh38]
Chr8:6961183..12157391 [GRCh37]
Chr8:6948593..12201760 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3 copy number gain See cases [RCV000138228] Chr8:226452..7981437 [GRCh38]
Chr8:176452..7838959 [GRCh37]
Chr8:166452..7876369 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely benign
GRCh38/hg38 8p23.1(chr8:7300731-7981415)x3 copy number gain See cases [RCV000139259] Chr8:7300731..7981415 [GRCh38]
Chr8:7158253..7838937 [GRCh37]
Chr8:7145663..7876347 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7142958-7895074)x3 copy number gain See cases [RCV000139295] Chr8:7142958..7895074 [GRCh38]
Chr8:7000480..7752596 [GRCh37]
Chr8:6987890..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-7895074)x1 copy number loss See cases [RCV000139215] Chr8:7411303..7895074 [GRCh38]
Chr8:7268825..7752596 [GRCh37]
Chr8:7256235..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-8273109)x3 copy number gain See cases [RCV000138916] Chr8:7381949..8273109 [GRCh38]
Chr8:7239471..8130631 [GRCh37]
Chr8:7226881..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1 copy number loss See cases [RCV000138943] Chr8:3934205..11526939 [GRCh38]
Chr8:3791727..11384448 [GRCh37]
Chr8:3779135..11421857 [NCBI36]
Chr8:8p23.2-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7022765-8222390)x3 copy number gain See cases [RCV000138990] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7022765-8222390)x1 copy number loss See cases [RCV000138991] Chr8:7022765..8222390 [GRCh38]
Chr8:6880287..8079912 [GRCh37]
Chr8:6867697..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1(chr8:7205665-7948701)x3 copy number gain See cases [RCV000139683] Chr8:7205665..7948701 [GRCh38]
Chr8:7063187..7806223 [GRCh37]
Chr8:7050597..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7381969-8222339)x1 copy number loss See cases [RCV000141493] Chr8:7381969..8222339 [GRCh38]
Chr8:7239491..8079861 [GRCh37]
Chr8:7226901..8117271 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381969-7948707)x1 copy number loss See cases [RCV000141527] Chr8:7381969..7948707 [GRCh38]
Chr8:7239491..7806229 [GRCh37]
Chr8:7226901..7843639 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311968-8222398)x3 copy number gain See cases [RCV000141528] Chr8:7311968..8222398 [GRCh38]
Chr8:7169490..8079920 [GRCh37]
Chr8:7156900..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-8222390)x3 copy number gain See cases [RCV000142393] Chr8:7381949..8222390 [GRCh38]
Chr8:7239471..8079912 [GRCh37]
Chr8:7226881..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-8222390)x1 copy number loss See cases [RCV000142394] Chr8:7381949..8222390 [GRCh38]
Chr8:7239471..8079912 [GRCh37]
Chr8:7226881..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-8222390)x1 copy number loss See cases [RCV000142401] Chr8:7195674..8222390 [GRCh38]
Chr8:7053196..8079912 [GRCh37]
Chr8:7040606..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7895074)x1 copy number loss See cases [RCV000142403] Chr8:7311988..7895074 [GRCh38]
Chr8:7169510..7752596 [GRCh37]
Chr8:7156920..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256134-8188790)x1 copy number loss See cases [RCV000142409] Chr8:7256134..8188790 [GRCh38]
Chr8:7113656..8046312 [GRCh37]
Chr8:7101066..8083722 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7948705)x3 copy number gain See cases [RCV000142470] Chr8:7311988..7948705 [GRCh38]
Chr8:7169510..7806227 [GRCh37]
Chr8:7156920..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7948705)x1 copy number loss See cases [RCV000142471] Chr8:7311988..7948705 [GRCh38]
Chr8:7169510..7806227 [GRCh37]
Chr8:7156920..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7948705)x1 copy number loss See cases [RCV000142476] Chr8:7195674..7948705 [GRCh38]
Chr8:7053196..7806227 [GRCh37]
Chr8:7040606..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7195674-7895074)x1 copy number loss See cases [RCV000142421] Chr8:7195674..7895074 [GRCh38]
Chr8:7053196..7752596 [GRCh37]
Chr8:7040606..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7834323)x1 copy number loss See cases [RCV000142422] Chr8:7311988..7834323 [GRCh38]
Chr8:7169510..7691845 [GRCh37]
Chr8:7156920..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7834323)x3 copy number gain See cases [RCV000142426] Chr8:7311988..7834323 [GRCh38]
Chr8:7169510..7691845 [GRCh37]
Chr8:7156920..7729255 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411303-7948705)x3 copy number gain See cases [RCV000142482] Chr8:7411303..7948705 [GRCh38]
Chr8:7268825..7806227 [GRCh37]
Chr8:7256235..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7948705)x1 copy number loss See cases [RCV000142494] Chr8:7381949..7948705 [GRCh38]
Chr8:7239471..7806227 [GRCh37]
Chr8:7226881..7843637 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8273109)x3 copy number gain See cases [RCV000142498] Chr8:7311988..8273109 [GRCh38]
Chr8:7169510..8130631 [GRCh37]
Chr8:7156920..8168041 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8222390)x3 copy number gain See cases [RCV000142429] Chr8:7311988..8222390 [GRCh38]
Chr8:7169510..8079912 [GRCh37]
Chr8:7156920..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-8222390)x1 copy number loss See cases [RCV000142430] Chr8:7311988..8222390 [GRCh38]
Chr8:7169510..8079912 [GRCh37]
Chr8:7156920..8117322 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7311988-7895074)x3 copy number gain See cases [RCV000142431] Chr8:7311988..7895074 [GRCh38]
Chr8:7169510..7752596 [GRCh37]
Chr8:7156920..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7381949-7895074)x1 copy number loss See cases [RCV000142434] Chr8:7381949..7895074 [GRCh38]
Chr8:7239471..7752596 [GRCh37]
Chr8:7226881..7790006 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3 copy number gain See cases [RCV000142961] Chr8:6786638..8364508 [GRCh38]
Chr8:6644159..8222024 [GRCh37]
Chr8:6631569..8259434 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1 copy number loss See cases [RCV000142847] Chr8:7256137..7981415 [GRCh38]
Chr8:7113659..7838937 [GRCh37]
Chr8:7101069..7876347 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7300731-7948701)x1 copy number loss See cases [RCV000142973] Chr8:7300731..7948701 [GRCh38]
Chr8:7158253..7806223 [GRCh37]
Chr8:7145663..7843633 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1 copy number loss See cases [RCV000142596] Chr8:241530..10458484 [GRCh38]
Chr8:191530..10315994 [GRCh37]
Chr8:181530..10353404 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1 copy number loss See cases [RCV000148205] Chr8:7195664..8222398 [GRCh38]
Chr8:7053186..8079920 [GRCh37]
Chr8:7040596..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x1 copy number loss See cases [RCV000148229] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3 copy number gain See cases [RCV000148230] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1 copy number loss See cases [RCV000148231] Chr8:7411297..8222398 [GRCh38]
Chr8:7268819..8079920 [GRCh37]
Chr8:7256229..8117330 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 copy number loss See cases [RCV000148253] Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3 copy number gain See cases [RCV000148154] Chr8:7411297..7895064 [GRCh38]
Chr8:7268819..7752586 [GRCh37]
Chr8:7256229..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1 copy number loss See cases [RCV000148188] Chr8:7195664..7895064 [GRCh38]
Chr8:7053186..7752586 [GRCh37]
Chr8:7040596..7789996 [NCBI36]
Chr8:8p23.1		 benign
GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3 copy number gain See cases [RCV000240124] Chr8:158991..13304906 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3 copy number gain See cases [RCV000239409] Chr8:164984..11860845 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3 copy number gain See cases [RCV000448692] Chr8:1166068..12570914 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1 copy number loss See cases [RCV000510201] Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1 copy number loss See cases [RCV000510827] Chr8:158048..9749574 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1(chr8:7053186-11805960)x3 copy number gain See cases [RCV000512636] Chr8:7053186..11805960 [GRCh37]
Chr8:7040596..11843369 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-8881836)x3 copy number gain not provided [RCV000683014] Chr8:6999219..8881836 [GRCh37]
Chr8:8p23.1		 likely pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3 copy number gain not provided [RCV000683034] Chr8:158048..9750676 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1 copy number loss not provided [RCV000683036] Chr8:158048..10939681 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-11898980)x3 copy number gain not provided [RCV000683030] Chr8:6999219..11898980 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-8948469)x1 copy number loss not provided [RCV000747246] Chr8:10213..8948469 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10213-10197718)x1 copy number loss not provided [RCV000747247] Chr8:10213..10197718 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:164984-10007227)x1 copy number loss not provided [RCV000747253] Chr8:164984..10007227 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.1(chr8:7191245-8165004)x1 copy number loss not provided [RCV000747344] Chr8:7191245..8165004 [GRCh37]
Chr8:8p23.1		 benign
GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1 copy number loss not provided [RCV000762736] Chr8:176814..7753583 [GRCh37]
Chr8:8p23.3-23.1		 likely pathogenic
GRCh37/hg19 8p23.3-22(chr8:194617-13947374) copy number gain not provided [RCV000767676] Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444) copy number loss Tetralogy of Fallot [RCV000767677] Chr8:194617..7787444 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1 copy number loss not provided [RCV000847768] Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1 copy number loss not provided [RCV000845663] Chr8:158048..9393052 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3 copy number gain not provided [RCV001006042] Chr8:158048..8102819 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3 copy number gain not provided [RCV001006060] Chr8:6999219..11895232 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3 copy number gain not provided [RCV002472889] Chr8:6284373..9047178 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.1(chr8:6999219-8641125)x3 copy number gain not provided [RCV001006061] Chr8:6999219..8641125 [GRCh37]
Chr8:8p23.1		 uncertain significance
GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1 copy number loss not provided [RCV001006043] Chr8:158048..9025197 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1 copy number loss Cerebellar ataxia [RCV001251057] Chr8:176814..11472913 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3 copy number gain not provided [RCV001827598] Chr8:158048..11936107 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1 copy number loss See cases [RCV002287568] Chr8:158048..11281408 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413) copy number gain Neurodevelopmental delay [RCV002280754] Chr8:158048..10348413 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1 copy number loss not provided [RCV002474566] Chr8:158049..10965627 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1 copy number loss See cases [RCV003329533] Chr8:10501..11142629 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3 copy number gain 8p23.1 duplication syndrome [RCV003329529] Chr8:7080281..12045269 [GRCh37]
Chr8:8p23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1 copy number loss not provided [RCV003483000] Chr8:158049..8192683 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1 copy number loss not provided [RCV003482999] Chr8:158049..11898696 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1 copy number loss not provided [RCV003482997] Chr8:158049..8093066 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1 copy number loss not provided [RCV003482998] Chr8:158049..10007143 [GRCh37]
Chr8:8p23.3-23.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3 copy number gain See cases [RCV004442825] Chr8:158049..16225393 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3 copy number gain not provided [RCV004577466] Chr8:7153587..12245784 [GRCh37]
Chr8:8p23.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:41
Count of miRNA genes:41
Interacting mature miRNAs:41
Transcripts:ENST00000318124
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human

Markers in Region
UniSTS:483325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3787,738,921 - 7,740,117UniSTSGRCh37
GRCh3787,286,479 - 7,287,675UniSTSGRCh37
HuRef86,934,678 - 6,935,874UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
ectoderm
endocrine system
endoderm
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
renal system
reproductive system
respiratory system
4 3 1 11 1 1 3 12 5 1 8 15 10

Sequence


RefSeq Acc Id: NM_018661   ⟹   NP_061131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,428,888 - 7,430,348 (-)NCBI
GRCh3787,286,410 - 7,287,682 (-)RGD
Build 3687,273,901 - 7,275,280 (-)NCBI Archive
HuRef86,934,610 - 6,935,882 (+)RGD
CHM1_187,339,936 - 7,341,397 (+)NCBI
T2T-CHM13v2.087,157,879 - 7,159,340 (-)NCBI
Sequence:
RefSeq Acc Id: NP_061131   ⟸   NM_018661
- Peptide Label: precursor
- UniProtKB: Q8NFG6 (UniProtKB/Swiss-Prot),   Q9NPF6 (UniProtKB/Swiss-Prot),   P81534 (UniProtKB/Swiss-Prot),   A0A894JZ42 (UniProtKB/TrEMBL)
- Sequence:

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P81534-F1-model_v2 AlphaFold P81534 1-67 view protein structure

Promoters
RGD ID:7212565
Promoter ID:EPDNEW_H12029
Type:single initiation site
Name:DEFB103B_1
Description:defensin beta 103B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3887,430,160 - 7,430,220EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31702 AgrOrtholog
COSMIC DEFB103B COSMIC
Ensembl Genes ENSG00000176797 Ensembl, UniProtKB/Swiss-Prot
  ENSG00000177243 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000273641 UniProtKB/Swiss-Prot
  ENSG00000284978 UniProtKB/Swiss-Prot
  ENSG00000285376 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000314357.4 UniProtKB/Swiss-Prot
  ENST00000318124 ENTREZGENE
  ENST00000318124.3 UniProtKB/Swiss-Prot
  ENST00000613448.2 UniProtKB/Swiss-Prot
  ENST00000642635.2 UniProtKB/Swiss-Prot
  ENST00000646344.2 UniProtKB/Swiss-Prot
GTEx ENSG00000176797 GTEx
  ENSG00000177243 GTEx
  ENSG00000273641 GTEx
  ENSG00000284978 GTEx
  ENSG00000285376 GTEx
HGNC ID HGNC:31702 ENTREZGENE
Human Proteome Map DEFB103B Human Proteome Map
InterPro Defensin_beta-typ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:414325 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:55894 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55894 ENTREZGENE
OMIM 606611 OMIM
PANTHER BETA-DEFENSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BETA-DEFENSIN 103 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Defensin_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134933952 PharmGKB
Superfamily-SCOP Defensin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A894JZ42 ENTREZGENE, UniProtKB/TrEMBL
  D103A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8NFG6 ENTREZGENE
  Q9NPF6 ENTREZGENE
UniProt Secondary Q8NFG6 UniProtKB/Swiss-Prot
  Q9NPF6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DEFB103B  defensin beta 103B    defensin, beta 103B  Symbol and/or name change 5135510 APPROVED
2014-09-17 DEFB103B  defensin, beta 103B  DEFB103A  defensin, beta 103A  Symbol and/or name change 5135510 APPROVED